Aliases for ADAM12 Gene
External Ids for ADAM12 Gene
Previous GeneCards Identifiers for ADAM12 Gene
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
GeneCards Summary for ADAM12 Gene
ADAM12 (ADAM Metallopeptidase Domain 12) is a Protein Coding gene. Diseases associated with ADAM12 include Cone-Rod Dystrophy 9 and Skeletal Muscle Regeneration. Among its related pathways are Development Dopamine D2 receptor transactivation of EGFR and Notch Signaling Pathway (sino). GO annotations related to this gene include SH3 domain binding and metallopeptidase activity. An important paralog of this gene is ADAM33.
UniProtKB/Swiss-Prot for ADAM12 Gene
Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity).